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Updated: Jun 26, 2026
08:16
Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
Acrocephalosyndactyly -- the coalesced hand
N Rebelo1, R Duarte, M José Costa
1Departamento de Cirurgia, Serviço de Medicina Física e Reabilitação, Hospital de Dona Estefânia, Lisboa, Portugal.
Summary
Apert syndrome (AS) causes complex congenital hand malformations. Early surgical intervention can improve hand function significantly, though aesthetic results vary. Specialized centers are crucial for optimal outcomes.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Developmental Biology
Background:
- Apert syndrome (AS) is a rare genetic disorder affecting 1 in 80,000 children, characterized by craniosynostosis and complex syndactyly.
- Hand deformities in AS significantly impede a child's interaction with their environment, potentially hindering intellectual and psychological development.
- Congenital hand malformations in AS are among the most complex, presenting unique surgical challenges.
Purpose of the Study:
- To evaluate the surgical treatment and outcomes of congenital hand malformations in children with Apert syndrome.
- To assess the impact of early surgical intervention on hand function and development in AS patients.
- To highlight the importance of specialized multidisciplinary care for managing Apert syndrome.
Main Methods:
- Retrospective analysis of 71 children treated for hand syndactyly between January 1987 and January 1999.
- Detailed review of surgical timing, procedures, and functional outcomes for six patients diagnosed with Apert syndrome.
- Assessment of functional hand gains achieved before school age.
Main Results:
- Six sporadic cases of Apert syndrome with complex hand syndactyly were identified among 71 patients.
- A trend towards earlier surgical intervention (before age two) was observed to optimize functional hand outcomes.
- Achieved functional hand gains ranged from 40% to 65% in AS patients before school age, with varying aesthetic results.
Conclusions:
- Early surgical intervention is key to improving hand function in Apert syndrome patients.
- Multidisciplinary specialized centers are essential for effective resource utilization and achieving optimal results in managing Apert syndrome.
- While functional outcomes are prioritized, aesthetic results in AS hand reconstruction can be variable.
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